PanelApp
  1. Genes and Genomic Entities
  2. PSMB4

PSMB4

proteasome subunit beta 4
OMIM: 602177, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PSMB4 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

Amber PSMB4 in Mendeliome


Version 1.3512

1 review Other
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

Amber PSMB4 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.28

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591